porencephaly Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description NT MGI. (Human Disease Ontology, DOID_0060263)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002132
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Genes

21 genes associated with the porencephaly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAR adenosine deaminase, RNA-specific
ARHGAP31 Rho GTPase activating protein 31
COL4A1 collagen, type IV, alpha 1
COL4A2 collagen, type IV, alpha 2
DOCK6 dedicator of cytokinesis 6
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
HRAS Harvey rat sarcoma viral oncogene homolog
IFIH1 interferon induced with helicase C domain 1
KRAS Kirsten rat sarcoma viral oncogene homolog
NOTCH1 notch 1
OFD1 oral-facial-digital syndrome 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
SAMHD1 SAM domain and HD domain 1
SHH sonic hedgehog
SIX3 SIX homeobox 3
TCTN3 tectonic family member 3
TREX1 three prime repair exonuclease 1